ZFIN Human Disease: Ehlers-Danlos syndrome spondylodysplastic type 2

OBO ID: DOID:0050802

Term Name:	Ehlers-Danlos syndrome spondylodysplastic type 2		Search Ontology:
Synonyms:	defective biosynthesis of proteodermatan sulfate Ehlers-Danlos syndrome progeroid type EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 XGPT deficiency xylosylprotein 4-beta-galactosyltransferase deficiency
Definition:	An Ehlers-Danlos syndrome that is characterized by aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin and has_material_basis_in compound heterozygous mutation in the B3GALT6 gene. http://www.nlm.nih.gov/medlineplus/ency/article/001468.htm
References:	OMIM:615349 ORDO:75496 SNOMEDCT_US_2023_03_01:720861000 UMLS_CUI:C1869122
Ontology:	Human Disease ( DOID:0050802 )

Relationships

is a type of:	autosomal recessive disease Ehlers-Danlos syndrome autosomal recessive disease Ehlers-Danlos syndrome Show first 5 Terms

OTHER Ehlers-Danlos syndrome spondylodysplastic type 2 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
B3GALT6	b3galt6	Ehlers-Danlos syndrome, spondylodysplastic type, 2	615349

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS (1)